Name

Polycythemia Due To Fall In Plasma Volume Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Polycythemia Due To Fall In Plasma Volume in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

polycythemia; polycythemia vera Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycythemia; polycythemia vera in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

myeloproliferative disorders; polycythemia; polycythemia vera; thrombocythemia, essential; thrombocytosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease myeloproliferative disorders; polycythemia; polycythemia vera; thrombocythemia, essential; thrombocytosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycythemia vera(c15.378.190.636.753)/enzymology; polycythemia(c15.378.738)/enzymology Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycythemia vera(c15.378.190.636.753)/enzymology; polycythemia(c15.378.738)/enzymology in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fall Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term fall in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Tendency To Fall Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Tendency To Fall in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Polycythemia Due To Erythropoietin Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Polycythemia Due To Erythropoietin in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Polycythemia Due To Excess Erythopoetin Production Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Polycythemia Due To Excess Erythopoetin Production in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Polycythemia Due To High Altitude Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Polycythemia Due To High Altitude in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Polycythemia Due To Stress Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Polycythemia Due To Stress in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Primary familial polycythemia due to EPO receptor mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Primary familial polycythemia due to EPO receptor mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Subiculum volume (corrected for total hippocampal volume) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Subiculum volume (corrected for total hippocampal volume) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Hippocampal subfield CA1 volume (corrected for total hippocampal volume) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Hippocampal subfield CA1 volume (corrected for total hippocampal volume) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Dentate gyrus granule cell layer volume (corrected for total hippocampal volume) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Dentate gyrus granule cell layer volume (corrected for total hippocampal volume) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Dentate gyrus molecular layer volume (corrected for total hippocampal volume) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Dentate gyrus molecular layer volume (corrected for total hippocampal volume) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Hippocampal tail volume (corrected for total hippocampal volume) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Hippocampal tail volume (corrected for total hippocampal volume) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Presubiculum volume (corrected for total hippocampal volume) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Presubiculum volume (corrected for total hippocampal volume) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Brain volume in infants (intracranial brain volume) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Brain volume in infants (intracranial brain volume) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR;THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR;THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN from the curated CTD Gene-Disease Associations dataset.

postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations Gene Set

From GAD Gene-Disease Associations

genes associated with the disease postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Hypermanganesemia with dystonia, polycythemia and cirrhosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypermanganesemia with dystonia, polycythemia and cirrhosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Polycythemia Vera Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Polycythemia Vera from the curated CTD Gene-Disease Associations dataset.

Hypermanganesemia with Dystonia Polycythemia and Cirrhosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypermanganesemia with Dystonia Polycythemia and Cirrhosis from the curated CTD Gene-Disease Associations dataset.

Polycythemia, primary familial and congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Polycythemia, primary familial and congenital from the curated CTD Gene-Disease Associations dataset.

Polycythemia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Polycythemia from the curated CTD Gene-Disease Associations dataset.

polycythemia vera Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease polycythemia vera from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

primary polycythemia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease primary polycythemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

polycythemia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease polycythemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

polycythemia vera Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease polycythemia vera in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

primary polycythemia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease primary polycythemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

acquired polycythemia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease acquired polycythemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

stress polycythemia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease stress polycythemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

polycythemia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease polycythemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

lymphoma; myeloproliferative disorders; polycythemia vera; thrombocythemia, essential Gene Set

From GAD Gene-Disease Associations

genes associated with the disease lymphoma; myeloproliferative disorders; polycythemia vera; thrombocythemia, essential in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycythemia vera; thrombocythemia, essential; thrombocythemia, hemorrhagic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycythemia vera; thrombocythemia, essential; thrombocythemia, hemorrhagic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

myeloproliferative disorders; polycythemia vera; thrombocythemia, essential; thrombocythemia, hemorrhagic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease myeloproliferative disorders; polycythemia vera; thrombocythemia, essential; thrombocythemia, hemorrhagic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neovascularization, pathologic; polycythemia vera; thrombocythemia, essential; thrombocythemia, hemorrhagic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neovascularization, pathologic; polycythemia vera; thrombocythemia, essential; thrombocythemia, hemorrhagic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycythemia vera; thrombocythemia, essential; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycythemia vera; thrombocythemia, essential; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

myeloproliferative disorders; philadelphia chromosome; polycythemia vera; primary myelofibrosis; thrombocythemia, essential; thrombocythemia, hemorrhagic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease myeloproliferative disorders; philadelphia chromosome; polycythemia vera; primary myelofibrosis; thrombocythemia, essential; thrombocythemia, hemorrhagic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chuvash-type congenital polycythemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chuvash-type congenital polycythemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycythemia vera; thrombocythemia, hemorrhagic; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycythemia vera; thrombocythemia, hemorrhagic; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

familial mediterranean fever; leukemia, myelogenous, chronic, bcr-abl positive; leukemia, myeloid; leukemia, myeloid, acute; myelodysplastic syndromes; myeloid leukemia; polycythemia vera; preleukemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease familial mediterranean fever; leukemia, myelogenous, chronic, bcr-abl positive; leukemia, myeloid; leukemia, myeloid, acute; myelodysplastic syndromes; myeloid leukemia; polycythemia vera; preleukemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

myeloproliferative disorders; polycythemia vera; primary myelofibrosis; thrombocythemia, essential Gene Set

From GAD Gene-Disease Associations

genes associated with the disease myeloproliferative disorders; polycythemia vera; primary myelofibrosis; thrombocythemia, essential in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anoxia; blood coagulation disorders, inherited; heart defects, congenital; infection; polycythemia; postoperative complications; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anoxia; blood coagulation disorders, inherited; heart defects, congenital; infection; polycythemia; postoperative complications; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hypertension, pulmonary; polycythemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hypertension, pulmonary; polycythemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycythemia vera; primary myelofibrosis; thrombocythemia, essential Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycythemia vera; primary myelofibrosis; thrombocythemia, essential in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hematologic neoplasms; polycythemia vera; thrombocythemia, essential Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hematologic neoplasms; polycythemia vera; thrombocythemia, essential in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hypertension; polycythemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hypertension; polycythemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycythemia vera Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycythemia vera in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; cardiovascular diseases; polycythemia vera; recurrence; thrombocythemia, hemorrhagic; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; cardiovascular diseases; polycythemia vera; recurrence; thrombocythemia, hemorrhagic; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blast crisis; blast phase; polycythemia vera; primary myelofibrosis; thrombocythemia, essential; thrombocythemia, hemorrhagic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blast crisis; blast phase; polycythemia vera; primary myelofibrosis; thrombocythemia, essential; thrombocythemia, hemorrhagic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycythemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycythemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycythemia vera; thrombocythemia, essential Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycythemia vera; thrombocythemia, essential in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

myeloproliferative disorders; polycythemia vera Gene Set

From GAD Gene-Disease Associations

genes associated with the disease myeloproliferative disorders; polycythemia vera in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

genetic diseases, inborn; polycythemia vera; thrombocythemia, essential Gene Set

From GAD Gene-Disease Associations

genes associated with the disease genetic diseases, inborn; polycythemia vera; thrombocythemia, essential in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycythemia vera; primary myelofibrosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycythemia vera; primary myelofibrosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leukemia, myelogenous, chronic, bcr-abl positive; myelodysplastic syndromes; myeloproliferative disorders; polycythemia vera; precursor cell lymphoblastic leukemia-lymphoma; thrombocythemia, essential Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leukemia, myelogenous, chronic, bcr-abl positive; myelodysplastic syndromes; myeloproliferative disorders; polycythemia vera; precursor cell lymphoblastic leukemia-lymphoma; thrombocythemia, essential in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cell transformation, neoplastic; leucocytosis; leukemia; leukocytosis; polycythemia vera; primary myelofibrosis; vascular diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cell transformation, neoplastic; leucocytosis; leukemia; leukocytosis; polycythemia vera; primary myelofibrosis; vascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; polycythemia vera Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; polycythemia vera in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hemochromatosis; polycythemia vera Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hemochromatosis; polycythemia vera in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

myeloproliferative disorders; polycythemia vera; thrombocythemia, essential Gene Set

From GAD Gene-Disease Associations

genes associated with the disease myeloproliferative disorders; polycythemia vera; thrombocythemia, essential in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital polycythemia. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital polycythemia. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycythemia Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term polycythemia in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

polycythemia vera Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease polycythemia vera in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

polycythemia Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease polycythemia in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

polycythemia Gene Set

From HPO Gene-Disease Associations

genes associated with the polycythemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Polycythemia Vera Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Polycythemia Vera phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Polycythemia Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Polycythemia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

polycythemia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the polycythemia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

polycythemia vera Gene Set

From OMIM Gene-Disease Associations

genes associated with the polycythemia vera phenotype from the curated OMIM Gene-Disease Associations dataset.

hypermanganesemia with dystonia, polycythemia, and cirrhosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypermanganesemia with dystonia, polycythemia, and cirrhosis phenotype from the curated OMIM Gene-Disease Associations dataset.

Polycythemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Polycythemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Polycythemia Vera Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Polycythemia Vera in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Secondary Polycythemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Secondary Polycythemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Familial Polycythemia Vera Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Familial Polycythemia Vera in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Stress Polycythemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Stress Polycythemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

polycythemia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the polycythemia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

Primary polycythemia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Primary polycythemia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Polycythemia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Polycythemia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Polycythemia vera Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Polycythemia vera from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Primary polycythemia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Primary polycythemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Polycythemia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Polycythemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Polycythemia vera Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Polycythemia vera in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Physiological polycythemia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Physiological polycythemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Acquired polycythemia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Acquired polycythemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Stress polycythemia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Stress polycythemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Chuvash polycythemia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Chuvash polycythemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Acquired polycythemia vera Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Acquired polycythemia vera phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Polycythemia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Polycythemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Forced Expiratory Volume Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Forced Expiratory Volume in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

urinary tract symptoms, prostate volume, uroflow and psa Gene Set

From GAD Gene-Disease Associations

genes associated with the disease urinary tract symptoms, prostate volume, uroflow and psa in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

forced expiratory volume Gene Set

From GAD Gene-Disease Associations

genes associated with the disease forced expiratory volume in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

mean platelet volume Gene Set

From GAD Gene-Disease Associations

genes associated with the disease mean platelet volume in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

normalized brain volume, multiple sclerosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease normalized brain volume, multiple sclerosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

mean corpuscular volume Gene Set

From GAD Gene-Disease Associations

genes associated with the disease mean corpuscular volume in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

iron status and erythrocyte volume Gene Set

From GAD Gene-Disease Associations

genes associated with the disease iron status and erythrocyte volume in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

prostate volume/histology endocrine patterns Gene Set

From GAD Gene-Disease Associations

genes associated with the disease prostate volume/histology endocrine patterns in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebellar volume Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cerebellar volume in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiac stroke volume to regular exercise Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiac stroke volume to regular exercise in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

volume Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term volume in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

negative regulation of urine volume Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of urine volume biological process from the curated GO Biological Process Annotations 2015 dataset.

cell volume homeostasis Gene Set

From GO Biological Process Annotations 2015

genes participating in the cell volume homeostasis biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of cell volume Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of cell volume biological process from the curated GO Biological Process Annotations 2015 dataset.

renal system process involved in regulation of blood volume Gene Set

From GO Biological Process Annotations 2015

genes participating in the renal system process involved in regulation of blood volume biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of blood volume by renal aldosterone Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of blood volume by renal aldosterone biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of urine volume Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of urine volume biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of blood volume by renin-angiotensin Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of blood volume by renin-angiotensin biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of urine volume Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of urine volume biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of cell volume Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of cell volume biological process from the curated GO Biological Process Annotations 2015 dataset.

volume-sensitive chloride channel activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the volume-sensitive chloride channel activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

volume-sensitive anion channel activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the volume-sensitive anion channel activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

Brain structure (temporal lobe volume) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Brain structure (temporal lobe volume) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Brain structure (hippocampal volume) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Brain structure (hippocampal volume) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Lung function (forced expiratory volume in 1 second) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Lung function (forced expiratory volume in 1 second) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Mean corpuscular volume Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Mean corpuscular volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Caudate nucleus volume Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Caudate nucleus volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Intracranial volume Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Intracranial volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Normalized brain volume Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Normalized brain volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Lentiform nucleus volume Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Lentiform nucleus volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Hippocampal volume Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Hippocampal volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Mean platelet volume Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Mean platelet volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Gray matter volume (schizophrenia interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Gray matter volume (schizophrenia interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

White matter hyperintensity volume in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the White matter hyperintensity volume in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Thyroid volume Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Thyroid volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Total ventricular volume Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Total ventricular volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Lung function (forced expiratory volume in 1 second to forced vital capacity ratio) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Lung function (forced expiratory volume in 1 second to forced vital capacity ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

abnormality of blood volume homeostasis Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of blood volume homeostasis phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

abnormal platelet volume Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormal platelet volume phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

increased mean platelet volume Gene Set

From HPO Gene-Disease Associations

genes associated with the increased mean platelet volume phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

decreased mean platelet volume Gene Set

From HPO Gene-Disease Associations

genes associated with the decreased mean platelet volume phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormal lung volume Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal lung volume phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased mean corpuscular volume Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased mean corpuscular volume phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased mean corpuscular volume Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased mean corpuscular volume phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased trabecular bone volume Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased trabecular bone volume phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal platelet volume Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal platelet volume phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal bone volume Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal bone volume phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased cardiac stroke volume Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased cardiac stroke volume phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased cardiac stroke volume Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased cardiac stroke volume phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased tidal volume Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased tidal volume phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal trabecular bone volume Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal trabecular bone volume phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased mean platelet volume Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased mean platelet volume phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased trabecular bone volume Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased trabecular bone volume phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal bladder urine volume Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal bladder urine volume phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal cardiac stroke volume Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal cardiac stroke volume phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased osteoid volume Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased osteoid volume phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal compact bone volume Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal compact bone volume phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased forebrain volume Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased forebrain volume phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased compact bone volume Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased compact bone volume phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased compact bone volume Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased compact bone volume phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased tidal volume Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased tidal volume phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased bone volume Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased bone volume phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal blood volume Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal blood volume phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal osteoid volume Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal osteoid volume phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased bone volume Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased bone volume phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased mean platelet volume Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased mean platelet volume phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal mean corpuscular volume Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal mean corpuscular volume phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased osteoid volume Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased osteoid volume phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal tidal volume Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal tidal volume phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

mean platelet volume qtl6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mean platelet volume qtl6 phenotype from the curated OMIM Gene-Disease Associations dataset.

mean platelet volume qtl4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mean platelet volume qtl4 phenotype from the curated OMIM Gene-Disease Associations dataset.

mean platelet volume qtl5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mean platelet volume qtl5 phenotype from the curated OMIM Gene-Disease Associations dataset.

[mean platelet volume qtl3] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [mean platelet volume qtl3] phenotype from the curated OMIM Gene-Disease Associations dataset.

[mean platelet volume qtl1] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [mean platelet volume qtl1] phenotype from the curated OMIM Gene-Disease Associations dataset.

[mean platelet volume qtl2] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [mean platelet volume qtl2] phenotype from the curated OMIM Gene-Disease Associations dataset.

Cerebral Volume Loss Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cerebral Volume Loss in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Mean Corpuscular Volume (Result) Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Mean Corpuscular Volume (Result) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Platelet Mean Volume Determination (Procedure) Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Platelet Mean Volume Determination (Procedure) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Forced Expiratory Volume Function Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Forced Expiratory Volume Function in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Increased Mean Platelet Volume Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Increased Mean Platelet Volume in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Decreased Mean Platelet Volume Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Decreased Mean Platelet Volume in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Decreased Thalamic Volume Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Decreased Thalamic Volume in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Decreased Mean Corpuscular Volume Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Decreased Mean Corpuscular Volume in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Reduced Amygdala Volume Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Reduced Amygdala Volume in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Abnormal Mean Corpuscular Volume Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Abnormal Mean Corpuscular Volume in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

negative regulation of urine volume Gene Set

From GO Biological Process Annotations 2023

genes participating in the negative regulation of urine volume biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of blood volume by renin-angiotensin Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of blood volume by renin-angiotensin biological process from the curated GO Biological Process Annotations 2023 dataset.

positive regulation of urine volume Gene Set

From GO Biological Process Annotations 2023

genes participating in the positive regulation of urine volume biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of blood volume by renal aldosterone Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of blood volume by renal aldosterone biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of urine volume Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of urine volume biological process from the curated GO Biological Process Annotations 2023 dataset.

negative regulation of cell volume Gene Set

From GO Biological Process Annotations 2023

genes participating in the negative regulation of cell volume biological process from the curated GO Biological Process Annotations 2023 dataset.

renal system process involved in regulation of blood volume Gene Set

From GO Biological Process Annotations 2023

genes participating in the renal system process involved in regulation of blood volume biological process from the curated GO Biological Process Annotations 2023 dataset.

volume-sensitive chloride channel activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the volume-sensitive chloride channel activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

volume-sensitive anion channel activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the volume-sensitive anion channel activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

decreased mean corpuscular volume Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased mean corpuscular volume phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased tidal volume Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased tidal volume phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased mean corpuscular volume Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased mean corpuscular volume phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal lung volume Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal lung volume phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased bone volume Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased bone volume phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased trabecular bone volume Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased trabecular bone volume phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased cardiac stroke volume Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased cardiac stroke volume phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased trabecular bone volume Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased trabecular bone volume phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased mean platelet volume Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased mean platelet volume phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal mean corpuscular volume Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal mean corpuscular volume phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal blood volume Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal blood volume phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased osteoid volume Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased osteoid volume phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased gallbladder volume Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased gallbladder volume phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased bone volume Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased bone volume phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased cardiac stroke volume Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased cardiac stroke volume phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal bone volume Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal bone volume phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased compact bone volume Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased compact bone volume phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased tidal volume Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased tidal volume phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased hippocampus volume Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased hippocampus volume phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased compact bone volume Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased compact bone volume phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased forebrain volume Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased forebrain volume phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased mean platelet volume Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased mean platelet volume phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased hippocampus volume Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased hippocampus volume phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased osteoid volume Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased osteoid volume phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal trabecular bone volume Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal trabecular bone volume phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal tidal volume Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal tidal volume phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal bladder urine volume Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal bladder urine volume phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal compact bone volume Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal compact bone volume phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased neocortex volume Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased neocortex volume phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased neocortex volume Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased neocortex volume phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased mean corpuscular volume Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the decreased mean corpuscular volume phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

decreased mean platelet volume Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the decreased mean platelet volume phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

increased mean platelet volume Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the increased mean platelet volume phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

increased mean corpuscular volume Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the increased mean corpuscular volume phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

increased cardiac stroke volume Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the increased cardiac stroke volume phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

decreased tidal volume Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the decreased tidal volume phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

abnormal mean corpuscular volume Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the abnormal mean corpuscular volume phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

decreased cardiac stroke volume Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the decreased cardiac stroke volume phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

increased tidal volume Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the increased tidal volume phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

negative regulation of urine volume Gene Set

From GO Biological Process Annotations 2025

genes participating in the negative regulation of urine volume biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of blood volume by renin-angiotensin Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of blood volume by renin-angiotensin biological process from the curated GO Biological Process Annotations 2025 dataset.

positive regulation of urine volume Gene Set

From GO Biological Process Annotations 2025

genes participating in the positive regulation of urine volume biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of blood volume by renal aldosterone Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of blood volume by renal aldosterone biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of urine volume Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of urine volume biological process from the curated GO Biological Process Annotations 2025 dataset.

negative regulation of cell volume Gene Set

From GO Biological Process Annotations 2025

genes participating in the negative regulation of cell volume biological process from the curated GO Biological Process Annotations 2025 dataset.

renal system process involved in regulation of blood volume Gene Set

From GO Biological Process Annotations 2025

genes participating in the renal system process involved in regulation of blood volume biological process from the curated GO Biological Process Annotations 2025 dataset.

volume-sensitive chloride channel activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the volume-sensitive chloride channel activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

volume-sensitive anion channel activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the volume-sensitive anion channel activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

Increased mean platelet volume Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Increased mean platelet volume phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Mean corpuscular volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Mean corpuscular volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Mean platelet volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Mean platelet volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Attention deficit hyperactivity disorder or intracranial volume (pleiotropy) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Attention deficit hyperactivity disorder or intracranial volume (pleiotropy) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Attention deficit hyperactivity disorder or putamen volume (pleiotropy) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Attention deficit hyperactivity disorder or putamen volume (pleiotropy) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Mean reticulocyte volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Mean reticulocyte volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Mean spheric corpuscular volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Mean spheric corpuscular volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Left ventricular end-diastolic volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Left ventricular end-diastolic volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Left ventricular end-systolic volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Left ventricular end-systolic volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Thyroid volume in Hashimoto’s thyroiditis Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Thyroid volume in Hashimoto’s thyroiditis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

White matter hyperintensity volume x hypertension interaction (2df) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the White matter hyperintensity volume x hypertension interaction (2df) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

White matter hyperintensity volume (adjusted for hypertension) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the White matter hyperintensity volume (adjusted for hypertension) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

White matter hyperintensity volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the White matter hyperintensity volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Subcortical volume (MOSTest) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Subcortical volume (MOSTest) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Subcortical volume (min-P) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Subcortical volume (min-P) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Total ventricular volume (Alzheimer's disease interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Total ventricular volume (Alzheimer's disease interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Entorhinal cortical volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Entorhinal cortical volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Whole-brain volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Whole-brain volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Hippocampal volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Hippocampal volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Total ventricular volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Total ventricular volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Entorhinal cortical volume (Alzheimer's disease interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Entorhinal cortical volume (Alzheimer's disease interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Whole-brain volume (Alzheimer's disease interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Whole-brain volume (Alzheimer's disease interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Forced expiratory volume in 1 second (occupational environmental exposures interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Forced expiratory volume in 1 second (occupational environmental exposures interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Occipital lobe volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Occipital lobe volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Parietal lobe volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Parietal lobe volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Temporal lobe volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Temporal lobe volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Urinary volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Urinary volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Cortical volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Cortical volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Superior frontal gyrus grey matter volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Superior frontal gyrus grey matter volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Left inferior lateral ventricle volume (Cerebrospinal fluid biomarker status interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Left inferior lateral ventricle volume (Cerebrospinal fluid biomarker status interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Gray matter volume (schizophrenia interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Gray matter volume (schizophrenia interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Thyroid volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Thyroid volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Left ventricular mass to end-diastolic volume ratio (MTAG) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Left ventricular mass to end-diastolic volume ratio (MTAG) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Left ventricular end-diastolic volume (MTAG) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Left ventricular end-diastolic volume (MTAG) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Left ventricular end-systolic volume (MTAG) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Left ventricular end-systolic volume (MTAG) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Left ventricular mass to end-diastolic volume ratio Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Left ventricular mass to end-diastolic volume ratio phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Lateral ventricular volume in normal aging Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Lateral ventricular volume in normal aging phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Uterine fibroid size (maximum volume) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Uterine fibroid size (maximum volume) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Subiculum volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Subiculum volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Total hippocampal volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Total hippocampal volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Hippocampal subfield CA3 volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Hippocampal subfield CA3 volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Hippocampal subfield CA4 volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Hippocampal subfield CA4 volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Presubiculum volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Presubiculum volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Hippocampal subfield CA1 volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Hippocampal subfield CA1 volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Dentate gyrus granule cell layer volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Dentate gyrus granule cell layer volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Dentate gyrus molecular layer volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Dentate gyrus molecular layer volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Hippocampal fissure volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Hippocampal fissure volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Hippocampal tail volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Hippocampal tail volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

HATA volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the HATA volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Brain structure (hippocampal volume) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Brain structure (hippocampal volume) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Brain structure (temporal lobe volume) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Brain structure (temporal lobe volume) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Normalized brain volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Normalized brain volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Intracranial volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Intracranial volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Caudate nucleus volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Caudate nucleus volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Lentiform nucleus volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Lentiform nucleus volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Putamen volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Putamen volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Dentate gyrus volume x schizophrenia interaction Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Dentate gyrus volume x schizophrenia interaction phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Caudal anterior-cingulate cortex volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Caudal anterior-cingulate cortex volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Cuneus cortex volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Cuneus cortex volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Caudal middle frontal gyrus volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Caudal middle frontal gyrus volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Fusiform gyrus volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Fusiform gyrus volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Inferior parietal cortex volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Inferior parietal cortex volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Inferior temporal gyrus volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Inferior temporal gyrus volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Pericalcarine cortex volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Pericalcarine cortex volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Postcentral gyrus volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Postcentral gyrus volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Posterior-cingulate cortex volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Posterior-cingulate cortex volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Lateral occipital cortex volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Lateral occipital cortex volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Lateral orbital frontal cortex volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Lateral orbital frontal cortex volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Lingual gyrus volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Lingual gyrus volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Paracentral lobule volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Paracentral lobule volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Pars opercularis volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Pars opercularis volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Pars orbitalis volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Pars orbitalis volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Pars triangularis volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Pars triangularis volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Middle temporal gyrus volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Middle temporal gyrus volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Parahippocampal gyrus volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Parahippocampal gyrus volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Isthmus-cingulate cortex volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Isthmus-cingulate cortex volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Medial orbital frontal cortex volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Medial orbital frontal cortex volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Rostral anterior cingulate cortex volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Rostral anterior cingulate cortex volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Rostral middle frontal gyrus volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Rostral middle frontal gyrus volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Superior frontal gyrus volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Superior frontal gyrus volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Superior parietal cortex volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Superior parietal cortex volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Superior temporal gyrus volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Superior temporal gyrus volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Supramarginal gyrus volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Supramarginal gyrus volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Precuneus cortex volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Precuneus cortex volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Temporal pole volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Temporal pole volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Transverse temporal cortex volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Transverse temporal cortex volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Insular cortex volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Insular cortex volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Frontal pole volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Frontal pole volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Corpus callosum central volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Corpus callosum central volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Corpus callosum mid-anterior volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Corpus callosum mid-anterior volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Corpus callosum anterior volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Corpus callosum anterior volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Cortex volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Cortex volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Fourth ventricle volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Fourth ventricle volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Corpus callosum posterior volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Corpus callosum posterior volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Corpus callosum Mid-posterior volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Corpus callosum Mid-posterior volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Lateral ventricle temporal horn volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Lateral ventricle temporal horn volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Lateral ventricle volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Lateral ventricle volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Third ventricle volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Third ventricle volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Ventral diencephalon volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Ventral diencephalon volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Choroid plexus volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Choroid plexus volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Pallidum volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Pallidum volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Amygdala volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Amygdala volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Thalamus volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Thalamus volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Cerebellum cortex volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Cerebellum cortex volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Superior temporal sulcus banks volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Superior temporal sulcus banks volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Total intracranial volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Total intracranial volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Cerebellum white matter volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Cerebellum white matter volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Cerebral white matter volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Cerebral white matter volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Sub-cortical grey matter volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Sub-cortical grey matter volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Total grey matter volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Total grey matter volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Hippocampal volume in mild cognitive impairment Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Hippocampal volume in mild cognitive impairment phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Hippocampal volume in Alzheimer's disease dementia Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Hippocampal volume in Alzheimer's disease dementia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Hippocampal volume in normal cognition Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Hippocampal volume in normal cognition phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Caudate volume in trauma-exposed individuals Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Caudate volume in trauma-exposed individuals phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Nucleus accumbens volume in trauma-exposed individuals Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Nucleus accumbens volume in trauma-exposed individuals phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Lateral ventricle volume in trauma-exposed individuals Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Lateral ventricle volume in trauma-exposed individuals phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Forced expiratory volume in 1 second (environmental tobacco smoke interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Forced expiratory volume in 1 second (environmental tobacco smoke interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Brain volume in infants (white matter) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Brain volume in infants (white matter) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Brain volume in infants (cerebrospinal fluid) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Brain volume in infants (cerebrospinal fluid) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Brain volume in infants (grey matter) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Brain volume in infants (grey matter) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Anterior thalamic nuclei volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Anterior thalamic nuclei volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Intralaminar thalamic nuclei volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Intralaminar thalamic nuclei volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Lateral thalamic nuclei volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Lateral thalamic nuclei volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Medial thalamic nuclei volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Medial thalamic nuclei volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Posterior thalamic nuclei volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Posterior thalamic nuclei volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Ventral thalamic nuclei volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Ventral thalamic nuclei volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Spleen volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Spleen volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Liver volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Liver volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Pancreas volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Pancreas volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Kidney volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Kidney volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Visceral adipose tissue volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Visceral adipose tissue volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Abdominal subcutaneous adipose tissue volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Abdominal subcutaneous adipose tissue volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Lung volume Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Lung volume phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Carbonic anhydrase va deficiency, hyperammonemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carbonic anhydrase va deficiency, hyperammonemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

SCID due to ADA deficiency, delayed onset Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the SCID due to ADA deficiency, delayed onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia due to protein S deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia due to protein S deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency due to ADA deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

HNSHA due to aldolase A deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the HNSHA due to aldolase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos-like syndrome due to tenascin-X deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos-like syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gaucher disease, atypical, due to saposin C deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gaucher disease, atypical, due to saposin C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Megaloblastic anemia due to inborn errors of metabolism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megaloblastic anemia due to inborn errors of metabolism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hemolytic anemia due to hexokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hemolytic anemia due to hexokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leigh syndrome due to mitochondrial complex I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leigh syndrome due to mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocysteinemia due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocysteinemia due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency due to ficolin 3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency due to ficolin 3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia due to activated protein C resistance Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia due to activated protein C resistance phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypermethioninemia due to adenosine kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypermethioninemia due to adenosine kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia due to thrombomodulin defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia due to thrombomodulin defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Muscular dystrophy, congenital, due to ITGA7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Muscular dystrophy, congenital, due to ITGA7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency due to defect in cd3-zeta Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency due to defect in cd3-zeta phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocystinuria due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocystinuria due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leigh syndrome due to mitochondrial complex II deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leigh syndrome due to mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy due to partial LAMA2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Megaloblastic anemia due to dihydrofolate reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Obesity, severe, due to leptin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Obesity, severe, due to leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adenylate kinase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adenylate kinase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immune dysfunction with T-cell inactivation due to calcium entry defect 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immune dysfunction with T-cell inactivation due to calcium entry defect 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immune dysfunction with T-cell inactivation due to calcium entry defect 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immune dysfunction with T-cell inactivation due to calcium entry defect 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital adrenal hyperplasia due to 21 hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Thrombophilia, X-Linked, Due To Factor Ix Defect Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thrombophilia, X-Linked, Due To Factor Ix Defect from the curated CTD Gene-Disease Associations dataset.

HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset.

Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type from the curated CTD Gene-Disease Associations dataset.

Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

Congenital thrombotic disease, due to Protein C deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital thrombotic disease, due to Protein C deficiency from the curated CTD Gene-Disease Associations dataset.

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO from the curated CTD Gene-Disease Associations dataset.

Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adenylate Kinase Deficiency, Hemolytic Anemia Due To from the curated CTD Gene-Disease Associations dataset.

Neurodegeneration Due To Cerebral Folate Transport Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neurodegeneration Due To Cerebral Folate Transport Deficiency from the curated CTD Gene-Disease Associations dataset.

THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency from the curated CTD Gene-Disease Associations dataset.

Severe combined immunodeficiency due to adenosine deaminase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe combined immunodeficiency due to adenosine deaminase deficiency from the curated CTD Gene-Disease Associations dataset.

Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency from the curated CTD Gene-Disease Associations dataset.

Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT from the curated CTD Gene-Disease Associations dataset.

Pseudohyperkalemia, Familial, 2, due to Red Cell Leak Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pseudohyperkalemia, Familial, 2, due to Red Cell Leak from the curated CTD Gene-Disease Associations dataset.

Krabbe Disease, Atypical, due to Saposin A Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Krabbe Disease, Atypical, due to Saposin A Deficiency from the curated CTD Gene-Disease Associations dataset.

HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION from the curated CTD Gene-Disease Associations dataset.

Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency from the curated CTD Gene-Disease Associations dataset.

Gaucher Disease, Atypical, Due To Saposin C Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gaucher Disease, Atypical, Due To Saposin C Deficiency from the curated CTD Gene-Disease Associations dataset.

Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations from the curated CTD Gene-Disease Associations dataset.

Thrombophilia Due To Elevated Histidine-Rich Glycoprotein Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thrombophilia Due To Elevated Histidine-Rich Glycoprotein from the curated CTD Gene-Disease Associations dataset.

Thrombophilia due to Activated Protein C Resistance Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thrombophilia due to Activated Protein C Resistance from the curated CTD Gene-Disease Associations dataset.

THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Immunodeficiency due to Defect in CD3-Zeta Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunodeficiency due to Defect in CD3-Zeta from the curated CTD Gene-Disease Associations dataset.

Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Metachromatic Leukodystrophy due to Saposin B Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Metachromatic Leukodystrophy due to Saposin B Deficiency from the curated CTD Gene-Disease Associations dataset.

Immunodeficiency due to Defect in MAPBP-Interacting Protein Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunodeficiency due to Defect in MAPBP-Interacting Protein from the curated CTD Gene-Disease Associations dataset.

HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Immune dysfunction with T-cell inactivation due to calcium entry defect 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immune dysfunction with T-cell inactivation due to calcium entry defect 1 from the curated CTD Gene-Disease Associations dataset.

Immune dysfunction with T-cell inactivation due to calcium entry defect 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immune dysfunction with T-cell inactivation due to calcium entry defect 2 from the curated CTD Gene-Disease Associations dataset.

thrombocytopenia due to platelet alloimmunization Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease thrombocytopenia due to platelet alloimmunization in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

pneumoconiosis due to talc Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease pneumoconiosis due to talc in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

hereditary spastic paraparesis due to a frame shift mutat Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hereditary spastic paraparesis due to a frame shift mutat in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

depressed suicide; suicide due to depression Gene Set

From GAD Gene-Disease Associations

genes associated with the disease depressed suicide; suicide due to depression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

due Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term due in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

anemia due to reduced life span of red cells Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the anemia due to reduced life span of red cells phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

decreased cervical spine flexion due to contractures of posterior cervical muscles Gene Set

From HPO Gene-Disease Associations

genes associated with the decreased cervical spine flexion due to contractures of posterior cervical muscles phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

anemia due to reduced life span of red cells Gene Set

From HPO Gene-Disease Associations

genes associated with the anemia due to reduced life span of red cells phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

restricted neck movement due to contractures Gene Set

From HPO Gene-Disease Associations

genes associated with the restricted neck movement due to contractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

chronic rhinitis due to narrow nasal airway Gene Set

From HPO Gene-Disease Associations

genes associated with the chronic rhinitis due to narrow nasal airway phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteomyelitis due to immunodeficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the osteomyelitis due to immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) Gene Set

From HPO Gene-Disease Associations

genes associated with the osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

bowing of limbs due to multiple fractures Gene Set

From HPO Gene-Disease Associations

genes associated with the bowing of limbs due to multiple fractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

respiratory insufficiency due to muscle weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the respiratory insufficiency due to muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteomyelitis leading to amputation due to slow healing fractures Gene Set

From HPO Gene-Disease Associations

genes associated with the osteomyelitis leading to amputation due to slow healing fractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

weakness due to upper motor neuron dysfunction Gene Set

From HPO Gene-Disease Associations

genes associated with the weakness due to upper motor neuron dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

self-mutilation of tongue and lips due to involuntary movements Gene Set

From HPO Gene-Disease Associations

genes associated with the self-mutilation of tongue and lips due to involuntary movements phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

respiratory insufficiency due to defective ciliary clearance Gene Set

From HPO Gene-Disease Associations

genes associated with the respiratory insufficiency due to defective ciliary clearance phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

recurrent infections due to aspiration Gene Set

From HPO Gene-Disease Associations

genes associated with the recurrent infections due to aspiration phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

generalized hypotonia due to defect at the neuromuscular junction Gene Set

From HPO Gene-Disease Associations

genes associated with the generalized hypotonia due to defect at the neuromuscular junction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

chronic hepatitis due to cryptospridium infection Gene Set

From HPO Gene-Disease Associations

genes associated with the chronic hepatitis due to cryptospridium infection phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

subperiosteal erosions due to secondary hyperparathyroidism Gene Set

From HPO Gene-Disease Associations

genes associated with the subperiosteal erosions due to secondary hyperparathyroidism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

painless fractures due to injury Gene Set

From HPO Gene-Disease Associations

genes associated with the painless fractures due to injury phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hepatic abscesses due to immunodeficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the hepatic abscesses due to immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cellulitis due to immunodeficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the cellulitis due to immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

decreased sweating due to autonomic dysfunction Gene Set

From HPO Gene-Disease Associations

genes associated with the decreased sweating due to autonomic dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

intermittent episodes of respiratory insufficiency due to muscle weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the intermittent episodes of respiratory insufficiency due to muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

orthostatic hypotension due to autonomic dysfunction Gene Set

From HPO Gene-Disease Associations

genes associated with the orthostatic hypotension due to autonomic dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

{chronic infections, due to mbl deficiency} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {chronic infections, due to mbl deficiency} phenotype from the curated OMIM Gene-Disease Associations dataset.

{hepatic fibrosis susceptibility due to schistosoma mansoni infection} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {hepatic fibrosis susceptibility due to schistosoma mansoni infection} phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to hrg deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to hrg deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to thrombomodulin defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to thrombomodulin defect phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency due to il2 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency due to il2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to protein s deficiency, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein s deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

bleeding disorder due to p2rx1 defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the bleeding disorder due to p2rx1 defect phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to phosphofructokinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to phosphofructokinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

nephropathy due to cfhr5 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the nephropathy due to cfhr5 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

encephalopahty, lethal, due to defective mitochondrial peroxisomal fission Gene Set

From OMIM Gene-Disease Associations

genes associated with the encephalopahty, lethal, due to defective mitochondrial peroxisomal fission phenotype from the curated OMIM Gene-Disease Associations dataset.

megaloblastic anemia due to dihydrofolate reductase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to protein s deficiency, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein s deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

chronic granulomatous disease, autosomal, due to deficiency of cyba Gene Set

From OMIM Gene-Disease Associations

genes associated with the chronic granulomatous disease, autosomal, due to deficiency of cyba phenotype from the curated OMIM Gene-Disease Associations dataset.

?isolated growth hormone deficiency due to defect in ghrf Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?isolated growth hormone deficiency due to defect in ghrf phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to heparin cofactor ii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to heparin cofactor ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

obesity, morbid, due to leptin receptor deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the obesity, morbid, due to leptin receptor deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hypercholesterolemia, due to ligand-defective apo b Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypercholesterolemia, due to ligand-defective apo b phenotype from the curated OMIM Gene-Disease Associations dataset.

glucocorticoid deficiency, due to acth unresponsiveness Gene Set

From OMIM Gene-Disease Associations

genes associated with the glucocorticoid deficiency, due to acth unresponsiveness phenotype from the curated OMIM Gene-Disease Associations dataset.

disordered steroidogenesis due to cytochrome p450 oxidoreductase Gene Set

From OMIM Gene-Disease Associations

genes associated with the disordered steroidogenesis due to cytochrome p450 oxidoreductase phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy, congenital, due to partial lama2 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy, congenital, due to partial lama2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemorrhagic diathesis due to 'antithrombin' pittsburgh Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemorrhagic diathesis due to 'antithrombin' pittsburgh phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency due to purine nucleoside phosphorylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency due to purine nucleoside phosphorylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to glutathione peroxidase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to glutathione peroxidase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to protein c deficiency, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein c deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

lacticacidemia due to pdx1 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the lacticacidemia due to pdx1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

omphalocele due to duplication of 1p31.3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the omphalocele due to duplication of 1p31.3 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy, congenital, due to itga7 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy, congenital, due to itga7 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

anemia, hemolytic, due to umph1 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the anemia, hemolytic, due to umph1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

homocystinuria due to mthfr deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the homocystinuria due to mthfr deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency due to ada deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency due to ada deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome due to mitochondrial complex i deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome due to mitochondrial complex i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to protein c deficiency, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein c deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

cirrhosis due to liver phosphorylase kinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the cirrhosis due to liver phosphorylase kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

metachromatic leukodystrophy due to sap-b deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the metachromatic leukodystrophy due to sap-b deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

gigantism due to ghrf hypersecretion Gene Set

From OMIM Gene-Disease Associations

genes associated with the gigantism due to ghrf hypersecretion phenotype from the curated OMIM Gene-Disease Associations dataset.

obesity, morbid, due to leptin deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the obesity, morbid, due to leptin deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

pseudohyperkalemia, familial, 2, due to red cell leak Gene Set

From OMIM Gene-Disease Associations

genes associated with the pseudohyperkalemia, familial, 2, due to red cell leak phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia, familial, due to decreased release of plat Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia, familial, due to decreased release of plat phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome, due to cox deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome, due to cox deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

macrocytic anemia, refractory, due to 5q deletion, somatic Gene Set

From OMIM Gene-Disease Associations

genes associated with the macrocytic anemia, refractory, due to 5q deletion, somatic phenotype from the curated OMIM Gene-Disease Associations dataset.

growth retardation with deafness and mental retardation due to igf1 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the growth retardation with deafness and mental retardation due to igf1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperammonemia due to carbonic anhydrase va deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperammonemia due to carbonic anhydrase va deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to g6pd deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to g6pd deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

{hypercholesterolemia, familial, due to ldlr defect, modifier of} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {hypercholesterolemia, familial, due to ldlr defect, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to glutathione synthetase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to glutathione synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

{drug-induced liver injury due to flucloxacillin} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {drug-induced liver injury due to flucloxacillin} phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to activated protein c resistance Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to activated protein c resistance phenotype from the curated OMIM Gene-Disease Associations dataset.

?male pseudohermaphroditism due to defective lh Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?male pseudohermaphroditism due to defective lh phenotype from the curated OMIM Gene-Disease Associations dataset.

hydrocephalus due to aqueductal stenosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the hydrocephalus due to aqueductal stenosis phenotype from the curated OMIM Gene-Disease Associations dataset.

bare lymphocyte syndrome, type i, due to tap2 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the bare lymphocyte syndrome, type i, due to tap2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to elevated hrg Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to elevated hrg phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to adenylate kinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to adenylate kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to glutathione reductase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to glutathione reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

emphysema due to aat deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the emphysema due to aat deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

obesity, adrenal insufficiency, and red hair due to pomc deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the obesity, adrenal insufficiency, and red hair due to pomc deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to antithrombin iii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to antithrombin iii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

erythrocytosis due to bisphosphoglycerate mutase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the erythrocytosis due to bisphosphoglycerate mutase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thalassemia due to hb lepore Gene Set

From OMIM Gene-Disease Associations

genes associated with the thalassemia due to hb lepore phenotype from the curated OMIM Gene-Disease Associations dataset.

rickets due to defect in vitamin d 25-hydroxylation Gene Set

From OMIM Gene-Disease Associations

genes associated with the rickets due to defect in vitamin d 25-hydroxylation phenotype from the curated OMIM Gene-Disease Associations dataset.

aica-ribosiduria due to atic deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the aica-ribosiduria due to atic deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hypoaldosteronism, congenital, due to cmo i deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypoaldosteronism, congenital, due to cmo i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome due to mitochondrial cox4 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome due to mitochondrial cox4 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

methylmalonic aciduria due to transcobalamin receptor defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the methylmalonic aciduria due to transcobalamin receptor defect phenotype from the curated OMIM Gene-Disease Associations dataset.

chronic granulomatous disease due to deficiency of ncf-2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the chronic granulomatous disease due to deficiency of ncf-2 phenotype from the curated OMIM Gene-Disease Associations dataset.

chronic granulomatous disease due to deficiency of ncf-1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the chronic granulomatous disease due to deficiency of ncf-1 phenotype from the curated OMIM Gene-Disease Associations dataset.

cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia, x-linked, due to factor ix defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia, x-linked, due to factor ix defect phenotype from the curated OMIM Gene-Disease Associations dataset.

hypermethioninemia due to adenosine kinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypermethioninemia due to adenosine kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

{thrombophilia, susceptibility to, due to factor v leiden} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {thrombophilia, susceptibility to, due to factor v leiden} phenotype from the curated OMIM Gene-Disease Associations dataset.

dystonia, dopa-responsive, due to sepiapterin reductase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the dystonia, dopa-responsive, due to sepiapterin reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency due to defect in mapbp-interacting protein Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency due to defect in mapbp-interacting protein phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome due to cytochrome c oxidase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome due to cytochrome c oxidase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

pyogenic bacterial infections, recurrent, due to myd88 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the pyogenic bacterial infections, recurrent, due to myd88 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

neurodegeneration due to cerebral folate transport deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the neurodegeneration due to cerebral folate transport deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

goiter, familial, due to ttf-1 defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the goiter, familial, due to ttf-1 defect phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to thrombin defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to thrombin defect phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency due to ficolin 3 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency due to ficolin 3 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperfibrinolysis, familial, due to increased release of plat Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperfibrinolysis, familial, due to increased release of plat phenotype from the curated OMIM Gene-Disease Associations dataset.

adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome due to mitochondrial complex 1 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome due to mitochondrial complex 1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to triosephosphate isomerase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to triosephosphate isomerase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

{resistance to malaria due to g6pd deficiency} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {resistance to malaria due to g6pd deficiency} phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to hexokinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to hexokinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemosiderosis, systemic, due to aceruloplasminemia Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemosiderosis, systemic, due to aceruloplasminemia phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy due to cpt ii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy due to cpt ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

emphysema-cirrhosis, due to aat deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the emphysema-cirrhosis, due to aat deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hypoaldosteronism, congenital, due to cmo ii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypoaldosteronism, congenital, due to cmo ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type Gene Set

From OMIM Gene-Disease Associations

genes associated with the methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type phenotype from the curated OMIM Gene-Disease Associations dataset.

?male infertility due to acrosin deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?male infertility due to acrosin deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy due to myoadenylate deaminase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy due to myoadenylate deaminase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) Gene Set

From Reactome Pathways 2014

proteins participating in the Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) pathway from the Reactome Pathways dataset.

Apoptosis-related network due to altered Notch3 in ovarian cancer(Homo sapiens) Gene Set

From WikiPathways Pathways 2014

proteins participating in the Apoptosis-related network due to altered Notch3 in ovarian cancer(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset.

Malignant Hyperpyrexia Due To Anesthesia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Malignant Hyperpyrexia Due To Anesthesia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Functional Diarrhoea (Due To Spastic Colon) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Functional Diarrhoea (Due To Spastic Colon) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Peripheral Neuropathy Due To And Following Chemotherapy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Peripheral Neuropathy Due To And Following Chemotherapy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hemolytic Disease Of Fetus Or Newborn Due To Abo Immunization Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hemolytic Disease Of Fetus Or Newborn Due To Abo Immunization in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Viral Gastroenteritis Due To Rotavirus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Viral Gastroenteritis Due To Rotavirus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Dementia Due To Alzheimer'S Disease (Disorder) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Dementia Due To Alzheimer'S Disease (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Whooping Cough Due To Unspecified Organism Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Whooping Cough Due To Unspecified Organism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Osteopenia Due To Disuse Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Osteopenia Due To Disuse in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Scid Due To Ada Deficiency, Early-Onset Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Scid Due To Ada Deficiency, Early-Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hypermethioninemia Due To Adenosine Kinase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hypermethioninemia Due To Adenosine Kinase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Disease Due To Parvoviridae Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Disease Due To Parvoviridae in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Chronic Respiratory Disease Due To Mycoplasma Gallisepticum Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Chronic Respiratory Disease Due To Mycoplasma Gallisepticum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Differentiation Syndrome Due To And Following Chemotherapy Co-Occurrent With Acute Promyelocytic Leukemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Differentiation Syndrome Due To And Following Chemotherapy Co-Occurrent With Acute Promyelocytic Leukemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Primary Adenocarcinoma Of Lower Third Of Esophagus Due To Barrett Esophagus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Primary Adenocarcinoma Of Lower Third Of Esophagus Due To Barrett Esophagus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Addison'S Disease Due To Autoimmunity Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Addison'S Disease Due To Autoimmunity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Adenylate Kinase Deficiency, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Eye Disorder Due To Diabetes Mellitus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Eye Disorder Due To Diabetes Mellitus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Ketoacidosis Due To Acute Alcohol Intoxication Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Ketoacidosis Due To Acute Alcohol Intoxication in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Human Anaplasmosis Due To Anaplasma Phagocytophilum Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Human Anaplasmosis Due To Anaplasma Phagocytophilum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hypercholesterolemia, Familial, Due To Ligand-Defective Apolipoprotein B Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hypercholesterolemia, Familial, Due To Ligand-Defective Apolipoprotein B in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

End Stage Renal Disease Due To Hypertension Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease End Stage Renal Disease Due To Hypertension in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Male Infertility With Teratozoospermia Due To Single Gene Mutation Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Male Infertility With Teratozoospermia Due To Single Gene Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hydrops Fetalis Due To Alpha Thalassemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hydrops Fetalis Due To Alpha Thalassemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Leigh Syndrome Due To Mitochondrial Complex I Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Disease Due To Acanthocephala Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Disease Due To Acanthocephala in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Fast Acetylator Due To N-Acetyltransferase Enzyme Variant Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Fast Acetylator Due To N-Acetyltransferase Enzyme Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Antibody Deficiency Due To Defect In Cd19 Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Antibody Deficiency Due To Defect In Cd19 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Disease Due To Neisseria Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Disease Due To Neisseria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Osteomyelitis Due To Staphylococcus Aureus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Osteomyelitis Due To Staphylococcus Aureus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Chronic Hepatitis Due To Cryptosporidium Infection Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Chronic Hepatitis Due To Cryptosporidium Infection in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hemosiderosis, Systemic, Due To Aceruloplasminemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hemosiderosis, Systemic, Due To Aceruloplasminemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infection Due To Brucella Suis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infection Due To Brucella Suis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Intestinal Obstruction Co-Occurrent And Due To Decreased Peristalsis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Intestinal Obstruction Co-Occurrent And Due To Decreased Peristalsis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Slow Acetylator Due To N-Acetyltransferase Enzyme Variant Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Slow Acetylator Due To N-Acetyltransferase Enzyme Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Body Skin Hyperlaxity Due To Vitamin K Dependent Coagulation Factor Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Body Skin Hyperlaxity Due To Vitamin K Dependent Coagulation Factor Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Recurrent Infections Due To Aspiration Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Recurrent Infections Due To Aspiration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Duodenal Obstruction Due To Malrotation Of Intestine Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Duodenal Obstruction Due To Malrotation Of Intestine in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Krabbe Disease, Atypical, Due To Saposin A Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Krabbe Disease, Atypical, Due To Saposin A Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infection Due To Mycobacterium Kansasii Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infection Due To Mycobacterium Kansasii in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hydronephrosis Due To Pujo Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hydronephrosis Due To Pujo in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Thyrotoxicosis Due To Pituitary Thyroid Hormone Resistance Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Thyrotoxicosis Due To Pituitary Thyroid Hormone Resistance in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Glutathione Peroxidase Deficiency, Hemolytic Anemia Possibly Due To Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Glutathione Peroxidase Deficiency, Hemolytic Anemia Possibly Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hemolytic Anemia Due To Hexokinase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hemolytic Anemia Due To Hexokinase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Disseminated Due To Other Mycobacteria Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Disseminated Due To Other Mycobacteria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Diabetes (Mellitus) Due To Autoimmune Process Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Diabetes (Mellitus) Due To Autoimmune Process in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Diabetes (Mellitus) Due To Immune Mediated Pancreatic Islet Beta-Cell Destruction Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Diabetes (Mellitus) Due To Immune Mediated Pancreatic Islet Beta-Cell Destruction in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Primary Immunodeficiency Syndrome Due To P14 Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Primary Immunodeficiency Syndrome Due To P14 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Scoliosis Due To Bony Malformation Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Scoliosis Due To Bony Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infection Due To Vancomycin Resistant Staphylococcus Aureus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infection Due To Vancomycin Resistant Staphylococcus Aureus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Early-Onset Axonal Neuropathy Due To Mitofusin 2 Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Early-Onset Axonal Neuropathy Due To Mitofusin 2 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Acute Renal Failure Due To Ischemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Acute Renal Failure Due To Ischemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Dementia Due To Parkinson'S Disease Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Dementia Due To Parkinson'S Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Urticaria Due To Cold And Heat Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Urticaria Due To Cold And Heat in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Urticaria Due To Cold Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Urticaria Due To Cold in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hypercoagulability Syndrome Due To Glycosylphosphatidylinositol Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hypercoagulability Syndrome Due To Glycosylphosphatidylinositol Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Acute Bronchitis Due To Respiratory Syncytial Virus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Acute Bronchitis Due To Respiratory Syncytial Virus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Irritant Contact Dermatitis Due To Incontinence Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Irritant Contact Dermatitis Due To Incontinence in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Thrombotic Disease, Due To Protein C Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Thrombotic Disease, Due To Protein C Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Gaucher Disease, Atypical, Due To Saposin C Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Gaucher Disease, Atypical, Due To Saposin C Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Metachromatic Leukodystrophy Due To Saposin B Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Metachromatic Leukodystrophy Due To Saposin B Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hemolytic Disease Of Fetus Or Newborn Due To Rhd Isoimmunization Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hemolytic Disease Of Fetus Or Newborn Due To Rhd Isoimmunization in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Extraoral Halitosis Due To Methanethiol Oxidase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Extraoral Halitosis Due To Methanethiol Oxidase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Complement Component 4, Partial Deficiency Of, Due To Dysfunctional C1 Inhibitor Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Complement Component 4, Partial Deficiency Of, Due To Dysfunctional C1 Inhibitor in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Dermatophilosis Due To Dermatophilus Congolensis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Dermatophilosis Due To Dermatophilus Congolensis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Perinatal Jaundice Due To Inspissated Bile Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Perinatal Jaundice Due To Inspissated Bile Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Zinc Deficiency, Neonatal, Due To Low Breast Milk Zinc Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Zinc Deficiency, Neonatal, Due To Low Breast Milk Zinc in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infection Due To Clostridium Chauvoei Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infection Due To Clostridium Chauvoei in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Developmental And Speech Delay Due To Sox5 Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Developmental And Speech Delay Due To Sox5 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Chronic Rhinitis Due To Narrow Nasal Airway Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Chronic Rhinitis Due To Narrow Nasal Airway in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Adult-Onset Distal Myopathy Due To Valosin Containing Protein Mutation Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Adult-Onset Distal Myopathy Due To Valosin Containing Protein Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Osteomalacia Due To Vitamin D Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Osteomalacia Due To Vitamin D Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Distal Muscle Atrophy Due To Neurologic Disease Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Distal Muscle Atrophy Due To Neurologic Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Respiratory Insufficiency Due To Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Respiratory Insufficiency Due To Muscle Weakness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Intermittent Episodes Of Respiratory Insufficiency Due To Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Intermittent Episodes Of Respiratory Insufficiency Due To Muscle Weakness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Psychomotor Retardation Due To S-Adenosylhomocysteine Hydrolase Deficiency Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Psychomotor Retardation Due To S-Adenosylhomocysteine Hydrolase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Respiratory Insufficiency Due To Defective Ciliary Clearance Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Respiratory Insufficiency Due To Defective Ciliary Clearance in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Orthostatic Hypotension Due To Autonomic Dysfunction Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Orthostatic Hypotension Due To Autonomic Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Osteomyelitis Leading To Amputation Due To Slow Healing Fractures Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Osteomyelitis Leading To Amputation Due To Slow Healing Fractures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Chromosomal Mosaicism Due To Mitotic Instability Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Chromosomal Mosaicism Due To Mitotic Instability in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Weakness Due To Upper Motor Neuron Dysfunction Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Weakness Due To Upper Motor Neuron Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Cephalhematoma Due To Birth Trauma Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Cephalhematoma Due To Birth Trauma in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Generalized Hypotonia Due To Defect At The Neuromuscular Junction Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Generalized Hypotonia Due To Defect At The Neuromuscular Junction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Bowing Of Limbs Due To Multiple Fractures Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Bowing Of Limbs Due To Multiple Fractures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Restricted Neck Movement Due To Contractures Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Restricted Neck Movement Due To Contractures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Decreased Cervical Spine Flexion Due To Contractures Of Posterior Cervical Muscles Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Decreased Cervical Spine Flexion Due To Contractures Of Posterior Cervical Muscles in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Painless Fractures Due To Injury Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Painless Fractures Due To Injury in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Decreased Sweating Due To Autonomic Dysfunction Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Decreased Sweating Due To Autonomic Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Acanthocytosis Due To Band 3 Ht Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Acanthocytosis Due To Band 3 Ht in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Self-Mutilation Of Tongue And Lips Due To Involuntary Movements Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Self-Mutilation Of Tongue And Lips Due To Involuntary Movements in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Apoptosis related network due to altered Notch3 in ovarian cancer Gene Set

From WikiPathways Pathways 2024

proteins participating in the Apoptosis related network due to altered Notch3 in ovarian cancer pathway from the WikiPathways Pathways 2024 dataset.

Aberrant regulation of mitotic G1/S transition in cancer due to RB1 defects Gene Set

From Reactome Pathways 2024

proteins participating in the Aberrant regulation of mitotic G1/S transition in cancer due to RB1 defects pathway from the Reactome Pathways 2024 dataset.

Aberrant regulation of mitotic cell cycle due to RB1 defects Gene Set

From Reactome Pathways 2024

proteins participating in the Aberrant regulation of mitotic cell cycle due to RB1 defects pathway from the Reactome Pathways 2024 dataset.

Aberrant regulation of mitotic exit in cancer due to RB1 defects Gene Set

From Reactome Pathways 2024

proteins participating in the Aberrant regulation of mitotic exit in cancer due to RB1 defects pathway from the Reactome Pathways 2024 dataset.

Defective DNA double strand break response due to BARD1 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective DNA double strand break response due to BARD1 loss of function pathway from the Reactome Pathways 2024 dataset.

Defective DNA double strand break response due to BRCA1 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective DNA double strand break response due to BRCA1 loss of function pathway from the Reactome Pathways 2024 dataset.

Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function pathway from the Reactome Pathways 2024 dataset.

Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function pathway from the Reactome Pathways 2024 dataset.

Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations Gene Set

From Reactome Pathways 2024

proteins participating in the Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations pathway from the Reactome Pathways 2024 dataset.

Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations Gene Set

From Reactome Pathways 2024

proteins participating in the Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations pathway from the Reactome Pathways 2024 dataset.

Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function pathway from the Reactome Pathways 2024 dataset.

Defective homologous recombination repair (HRR) due to BRCA1 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective homologous recombination repair (HRR) due to BRCA1 loss of function pathway from the Reactome Pathways 2024 dataset.

Defective homologous recombination repair (HRR) due to BRCA2 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective homologous recombination repair (HRR) due to BRCA2 loss of function pathway from the Reactome Pathways 2024 dataset.

Defective homologous recombination repair (HRR) due to PALB2 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective homologous recombination repair (HRR) due to PALB2 loss of function pathway from the Reactome Pathways 2024 dataset.

Defective visual phototransduction due to ABCA4 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective visual phototransduction due to ABCA4 loss of function pathway from the Reactome Pathways 2024 dataset.

Defective visual phototransduction due to LRAT loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective visual phototransduction due to LRAT loss of function pathway from the Reactome Pathways 2024 dataset.

Defective visual phototransduction due to OPN1LW loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective visual phototransduction due to OPN1LW loss of function pathway from the Reactome Pathways 2024 dataset.

Defective visual phototransduction due to OPN1MW loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective visual phototransduction due to OPN1MW loss of function pathway from the Reactome Pathways 2024 dataset.

Defective visual phototransduction due to OPN1SW loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective visual phototransduction due to OPN1SW loss of function pathway from the Reactome Pathways 2024 dataset.

Defective visual phototransduction due to RDH12 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective visual phototransduction due to RDH12 loss of function pathway from the Reactome Pathways 2024 dataset.

Defective visual phototransduction due to RDH5 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective visual phototransduction due to RDH5 loss of function pathway from the Reactome Pathways 2024 dataset.

Defective visual phototransduction due to STRA6 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective visual phototransduction due to STRA6 loss of function pathway from the Reactome Pathways 2024 dataset.

Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 pathway from the Reactome Pathways 2024 dataset.

Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 pathway from the Reactome Pathways 2024 dataset.

Evasion of Oncogene Induced Senescence Due to p14ARF Defects Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oncogene Induced Senescence Due to p14ARF Defects pathway from the Reactome Pathways 2024 dataset.

Evasion of Oncogene Induced Senescence Due to p16INK4A Defects Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oncogene Induced Senescence Due to p16INK4A Defects pathway from the Reactome Pathways 2024 dataset.

Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 pathway from the Reactome Pathways 2024 dataset.

Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 pathway from the Reactome Pathways 2024 dataset.

Evasion of Oxidative Stress Induced Senescence Due to p14ARF Defects Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oxidative Stress Induced Senescence Due to p14ARF Defects pathway from the Reactome Pathways 2024 dataset.

Evasion of Oxidative Stress Induced Senescence Due to p16INK4A Defects Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oxidative Stress Induced Senescence Due to p16INK4A Defects pathway from the Reactome Pathways 2024 dataset.

Loss of function of TP53 in cancer due to loss of tetramerization ability Gene Set

From Reactome Pathways 2024

proteins participating in the Loss of function of TP53 in cancer due to loss of tetramerization ability pathway from the Reactome Pathways 2024 dataset.

Severe congenital encephalopathy due to MECP2 mutation Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Severe congenital encephalopathy due to MECP2 mutation from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Male infertility due to globozoospermia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Male infertility due to globozoospermia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Congenital muscular dystrophy due to LMNA mutation Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Congenital muscular dystrophy due to LMNA mutation from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Male infertility due to globozoospermia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Male infertility due to globozoospermia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Male infertility due to acephalic spermatozoa Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Male infertility due to acephalic spermatozoa in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Thrombocytopenia due to platelet alloimmunization Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Thrombocytopenia due to platelet alloimmunization in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Polyneuropathy due to drug Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Polyneuropathy due to drug in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Congenital muscular dystrophy due to LMNA mutation Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Congenital muscular dystrophy due to LMNA mutation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Encephalopathy due to defective mitochondrial and peroxisomal fission 1 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Encephalopathy due to defective mitochondrial and peroxisomal fission 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Thrombophilia due to activated protein C resistance Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Thrombophilia due to activated protein C resistance in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Thrombophilia due to thrombin defect Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Thrombophilia due to thrombin defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Multiple epiphyseal dysplasia due to collagen 9 anomaly Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Multiple epiphyseal dysplasia due to collagen 9 anomaly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Congenital muscular dystrophy due to integrin alpha-7 deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Congenital muscular dystrophy due to integrin alpha-7 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Severe congenital encephalopathy due to MECP2 mutation Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Severe congenital encephalopathy due to MECP2 mutation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Thrombophilia due to HRG deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Thrombophilia due to HRG deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

X-linked thrombophilia due to factor IX defect Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease X-linked thrombophilia due to factor IX defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Autosomal recessive thrombophilia due to protein C deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Autosomal recessive thrombophilia due to protein C deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Autosomal dominant thrombophilia due to protein C deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Autosomal dominant thrombophilia due to protein C deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Thrombophilia due to thrombomodulin defect Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Thrombophilia due to thrombomodulin defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Autosomal dominant thrombophilia due to protein S deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Autosomal dominant thrombophilia due to protein S deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hyperphenylalaninemia due to tetrahydrobiopterin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Thrombophilia due to activated protein C resistance Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Thrombophilia due to activated protein C resistance phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Thrombophilia due to protein C deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Thrombophilia due to protein C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hereditary thrombophilia due to congenital protein C deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hereditary thrombophilia due to congenital protein C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

SCID due to ADA deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the SCID due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disease due to glycogen branching enzyme deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to glycogen branching enzyme deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Predisposition to invasive fungal disease due to CARD9 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Predisposition to invasive fungal disease due to CARD9 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Homocystinuria due to methylene tetrahydrofolate reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Homocystinuria due to methylene tetrahydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Thrombophilia due to thrombin defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Thrombophilia due to thrombin defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive ataxia due to ubiquinone deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive ataxia due to ubiquinone deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disease due to acid maltase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to acid maltase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hepatoencephalopathy due to combined oxidative phosphorylation defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hepatoencephalopathy due to combined oxidative phosphorylation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Syndromic multisystem autoimmune disease due to ITCH deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Syndromic multisystem autoimmune disease due to ITCH deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Rubinstein-Taybi syndrome due to EP300 haploinsufficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to DCLRE1C deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to DCLRE1C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Immunodeficiency due to ficolin3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Immunodeficiency due to ficolin3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Fatal mitochondrial disease due to combined oxidative phosphorylation defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Fatal mitochondrial disease due to combined oxidative phosphorylation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Sulfite oxidase deficiency due to molybdenum cofactor deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Sulfite oxidase deficiency due to molybdenum cofactor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Neonatal intrahepatic cholestasis due to citrin deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Neonatal intrahepatic cholestasis due to citrin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Familial hyperthyroidism due to mutations in TSH receptor Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Familial hyperthyroidism due to mutations in TSH receptor phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hypothyroidism due to TSH receptor mutations Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hypothyroidism due to TSH receptor mutations phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Lissencephaly due to TUBA1A mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Lissencephaly due to TUBA1A mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Peroxisome biogenesis disorder due to PEX1 defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Peroxisome biogenesis disorder due to PEX1 defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Alagille syndrome due to a JAG1 point mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Alagille syndrome due to a JAG1 point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature due to growth hormone secretagogue receptor deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature due to growth hormone secretagogue receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Interstitial lung disease due to ABCA3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Interstitial lung disease due to ABCA3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Lissencephaly due to LIS1 mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Lissencephaly due to LIS1 mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Obesity due to leptin receptor gene deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Obesity due to leptin receptor gene deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Ehlers-Danlos syndrome due to tenascin-X deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Ehlers-Danlos syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature due to partial GHR deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature due to partial GHR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital lipoid adrenal hyperplasia due to STAR deficency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital lipoid adrenal hyperplasia due to STAR deficency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

T-B+ severe combined immunodeficiency due to JAK3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the T-B+ severe combined immunodeficiency due to JAK3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Rubinstein-Taybi syndrome due to CREBBP mutations Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Rubinstein-Taybi syndrome due to CREBBP mutations phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to phosphoglycerate kinase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hydrocephalus due to aqueductal stenosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hydrocephalus due to aqueductal stenosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

X-linked lymphoproliferative disease due to SH2D1A deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the X-linked lymphoproliferative disease due to SH2D1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Lissencephaly due to doublecortin gene mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Lissencephaly due to doublecortin gene mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disease due to glucose-6-phosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to glucose-6-phosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to CD3gamma deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to CD3gamma deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Leigh syndrome due to mitochondrial complex IV deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Leigh syndrome due to mitochondrial complex IV deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Dopa-responsive dystonia due to sepiapterin reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Dopa-responsive dystonia due to sepiapterin reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to partial RAG1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to partial RAG1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to ZAP70 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to ZAP70 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Thrombophilia due to protein S deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Thrombophilia due to protein S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Obesity due to pro-opiomelanocortin deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Obesity due to pro-opiomelanocortin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Gaucher disease due to saposin C deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Gaucher disease due to saposin C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Krabbe disease due to saposin A deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Krabbe disease due to saposin A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hemolytic anemia due to glucophosphate isomerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hemolytic anemia due to glucophosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital muscular dystrophy due to partial LAMA2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Obesity due to melanocortin 4 receptor deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Obesity due to melanocortin 4 receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital muscular dystrophy due to LMNA mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital muscular dystrophy due to LMNA mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Growth delay due to insulin-like growth factor I resistance Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Growth delay due to insulin-like growth factor I resistance phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hyperinsulinism due to HNF1A deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hyperinsulinism due to HNF1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature due to growth hormone qualitative anomaly Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature due to growth hormone qualitative anomaly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disorder due to hepatic glycogen synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disorder due to hepatic glycogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Encephalopathy due to GLUT1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Encephalopathy due to GLUT1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hyperinsulinism due to glucokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hyperinsulinism due to glucokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disease due to muscle beta-enolase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to muscle beta-enolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to LRBA deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to LRBA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to STK4 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to STK4 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to STIM1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to STIM1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Epidermolysis bullosa simplex due to plakophilin deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Epidermolysis bullosa simplex due to plakophilin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to CARD11 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to CARD11 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disease due to SLC37A4 mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to SLC37A4 mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to DOCK8 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to DOCK8 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital muscular dystrophy due to integrin alpha-7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital muscular dystrophy due to integrin alpha-7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Limb-girdle muscular dystrophy due to POMK deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Limb-girdle muscular dystrophy due to POMK deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Vasculitis due to ADA2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Vasculitis due to ADA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disease due to muscle and heart glycogen synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to muscle and heart glycogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Microcephalic primordial dwarfism due to RTTN deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Microcephalic primordial dwarfism due to RTTN deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Ketoacidosis due to monocarboxylate transporter-1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Ketoacidosis due to monocarboxylate transporter-1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Metabolic myopathy due to lactate transporter defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Metabolic myopathy due to lactate transporter defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Microcephalic primordial dwarfism due to ZNF335 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Microcephalic primordial dwarfism due to ZNF335 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autism spectrum disorder due to AUTS2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autism spectrum disorder due to AUTS2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Pyogenic bacterial infections due to MyD88 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Pyogenic bacterial infections due to MyD88 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Alagille syndrome due to a NOTCH2 point mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Alagille syndrome due to a NOTCH2 point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Methylmalonic acidemia due to transcobalamin receptor defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Methylmalonic acidemia due to transcobalamin receptor defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Childhood encephalopathy due to thiamine pyrophosphokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Childhood encephalopathy due to thiamine pyrophosphokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to CTPS1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to CTPS1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive severe congenital neutropenia due to CSF3R deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive severe congenital neutropenia due to CSF3R deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Neurofibromatosis due to NF1 mutation or intragenic deletion Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Neurofibromatosis due to NF1 mutation or intragenic deletion phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to ORAI1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to ORAI1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hyperinsulinism due to INSR deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hyperinsulinism due to INSR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Immunodeficiency due to CD25 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Immunodeficiency due to CD25 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

DeSanto-Shinawi syndrome due to WAC point mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the DeSanto-Shinawi syndrome due to WAC point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Obesity due to SIM1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Obesity due to SIM1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hemolytic anemia due to hexokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hemolytic anemia due to hexokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

X-linked lymphoproliferative disease due to XIAP deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the X-linked lymphoproliferative disease due to XIAP deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to CARMIL2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to CARMIL2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Growth delay due to insulin-like growth factor deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Growth delay due to insulin-like growth factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Immunodeficiency due to MASP-2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Immunodeficiency due to MASP-2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital brain dysgenesis due to glutamine synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital brain dysgenesis due to glutamine synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Obesity due to prohormone convertase I deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Obesity due to prohormone convertase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Obesity due to congenital leptin deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Obesity due to congenital leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hyperlipidemia due to hepatic triglyceride lipase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hyperlipidemia due to hepatic triglyceride lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature due to primary acid-labile subunit deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature due to primary acid-labile subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Immunodeficiency due to defect in CD3-gamma Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Immunodeficiency due to defect in CD3-gamma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

HNSHA due to aldolase A deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the HNSHA due to aldolase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to moesin deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to moesin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hemolytic anemia due to erythrocyte adenosine deaminase overproduction Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hemolytic anemia due to erythrocyte adenosine deaminase overproduction phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hemolytic anemia due to adenylate kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hemolytic anemia due to adenylate kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to DNA-PKcs deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to DNA-PKcs deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Encephalopathy due to defective mitochondrial and peroxisomal fission Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Encephalopathy due to defective mitochondrial and peroxisomal fission phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to CORO1A deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to CORO1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to OX40 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to OX40 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to IKK2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to IKK2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Beckwith-Wiedemann syndrome due to CDKN1C mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Beckwith-Wiedemann syndrome due to CDKN1C mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Myopathy due to calsequestrin and SERCA1 protein overload Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Myopathy due to calsequestrin and SERCA1 protein overload phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal dominant hyperinsulinism due to SUR1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal dominant hyperinsulinism due to SUR1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hyperinsulinism due to HNF4A deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hyperinsulinism due to HNF4A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hemolytic anemia due to glutathione reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hemolytic anemia due to glutathione reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to MALT1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to MALT1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

SIN3A-related intellectual disability syndrome due to a point mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the SIN3A-related intellectual disability syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to LCK deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to LCK deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Immunodeficiency due to a late component of complement deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Immunodeficiency due to a late component of complement deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Lactic aciduria due to D-lactic acid Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Lactic aciduria due to D-lactic acid phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Recurrent Neisseria infections due to factor D deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Recurrent Neisseria infections due to factor D deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Kleefstra syndrome due to a point mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Kleefstra syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hyperphenylalaninemia due to DNAJC12 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hyperphenylalaninemia due to DNAJC12 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Obesity due to CEP19 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Obesity due to CEP19 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Pancytopenia due to IKZF1 mutations Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Pancytopenia due to IKZF1 mutations phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hao-Fountain syndrome due to USP7 mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hao-Fountain syndrome due to USP7 mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Progressive retinal dystrophy due to retinol transport defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Progressive retinal dystrophy due to retinol transport defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Primary immunodeficiency syndrome due to p14 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Primary immunodeficiency syndrome due to p14 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to LAT deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to LAT deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to GINS1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to GINS1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hereditary thrombophilia due to congenital histidine-rich Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hereditary thrombophilia due to congenital histidine-rich phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Juvenile arthritis due to defect in LA Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Juvenile arthritis due to defect in LA phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Neurometabolic disorder due to serine deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Neurometabolic disorder due to serine deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Immunodeficiency due to purine nucleoside phosphorylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Immunodeficiency due to purine nucleoside phosphorylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hereditary thrombophilia due to congenital protein S deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hereditary thrombophilia due to congenital protein S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

X-linked acrogigantism due to Xq26 microduplication Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the X-linked acrogigantism due to Xq26 microduplication phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Male infertility due to gonadal dysgenesis or sperm disorder Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Male infertility due to gonadal dysgenesis or sperm disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Female infertility due to zona pellucida defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Female infertility due to zona pellucida defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

plasma membrane part Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the plasma membrane part cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

basal plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the basal plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

anchored component of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the anchored component of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

intrinsic component of the cytoplasmic side of the plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the intrinsic component of the cytoplasmic side of the plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

extrinsic component of external side of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the extrinsic component of external side of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

plasma lipoprotein particle Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the plasma lipoprotein particle cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

anchored component of external side of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the anchored component of external side of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

protein c inhibitor-plasma kallikrein complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the protein c inhibitor-plasma kallikrein complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

apicolateral plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the apicolateral plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

spanning component of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the spanning component of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

intrinsic component of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the intrinsic component of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

integral component of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the integral component of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

intrinsic component of external side of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the intrinsic component of external side of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

extrinsic component of cytoplasmic side of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the extrinsic component of cytoplasmic side of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

plasma membrane region Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the plasma membrane region cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

extrinsic component of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the extrinsic component of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

apical plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the apical plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

integral component of external side of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the integral component of external side of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

plasma membrane raft Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the plasma membrane raft cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

basolateral plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the basolateral plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

cytoplasmic side of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the cytoplasmic side of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

lateral plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the lateral plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

external side of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the external side of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

plasma membrane Gene Set

From COMPARTMENTS Experimental Protein Localization Evidence Scores

proteins localized to the plasma membrane cellular component in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.

plasma membrane part Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the plasma membrane part cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

basal plasma membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the basal plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

plasma membrane-derived chromatophore Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the plasma membrane-derived chromatophore cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

anchored component of plasma membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the anchored component of plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

yolk plasma Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the yolk plasma cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

plasma lipoprotein particle Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the plasma lipoprotein particle cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

plasma membrane respiratory chain Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the plasma membrane respiratory chain cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

apicolateral plasma membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the apicolateral plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

spanning component of plasma membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the spanning component of plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

intrinsic component of plasma membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the intrinsic component of plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

integral component of plasma membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the integral component of plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

extrinsic component of cytoplasmic side of plasma membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the extrinsic component of cytoplasmic side of plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

plasma membrane region Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the plasma membrane region cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

extrinsic component of plasma membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the extrinsic component of plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

apical plasma membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the apical plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

plasma membrane raft Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the plasma membrane raft cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

plasma membrane-derived chromatophore membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the plasma membrane-derived chromatophore membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

plasma membrane light-harvesting complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the plasma membrane light-harvesting complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

basolateral plasma membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the basolateral plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

cytoplasmic side of plasma membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the cytoplasmic side of plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

lateral plasma membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the lateral plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

external side of plasma membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the external side of plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

plasma membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

Leukemia, Plasma Cell Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leukemia, Plasma Cell from the curated CTD Gene-Disease Associations dataset.

Granuloma, Plasma Cell Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Granuloma, Plasma Cell from the curated CTD Gene-Disease Associations dataset.

ZINC, ELEVATED PLASMA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ZINC, ELEVATED PLASMA from the curated CTD Gene-Disease Associations dataset.

Plasma Cell Granuloma, Pulmonary Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Plasma Cell Granuloma, Pulmonary from the curated CTD Gene-Disease Associations dataset.

VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1 from the curated CTD Gene-Disease Associations dataset.

Serotonin Plasma Membrane Transport Proteins Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Serotonin Plasma Membrane Transport Proteins in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

plasma protein metabolism disease Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease plasma protein metabolism disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

pulmonary plasma cell granuloma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease pulmonary plasma cell granuloma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

plasma protein metabolism disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease plasma protein metabolism disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

orbital plasma cell granuloma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease orbital plasma cell granuloma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

plasma cell neoplasm Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease plasma cell neoplasm in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

plasma il6 levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma il6 levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood pressure; aldosterone; glomerular filtration rate; renal plasma flow Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood pressure; aldosterone; glomerular filtration rate; renal plasma flow in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma no metabolite levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma no metabolite levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma caffeine metabolite ratio Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma caffeine metabolite ratio in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

reduced gene expression and lower plasma levels of beta2-glycoprotein i Gene Set

From GAD Gene-Disease Associations

genes associated with the disease reduced gene expression and lower plasma levels of beta2-glycoprotein i in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma vwf Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma vwf in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma homocysteine level Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma homocysteine level in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

low plasma levels of factor viic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease low plasma levels of factor viic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma glucose levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma glucose levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma endothelin-1 levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma endothelin-1 levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma glucose, basal hepatic glucose and increased insulin release Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma glucose, basal hepatic glucose and increased insulin release in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

reduced plasma concentrations of repaglinide Gene Set

From GAD Gene-Disease Associations

genes associated with the disease reduced plasma concentrations of repaglinide in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma high density lipoprotein cholesterol and apolipoprotein ai Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma high density lipoprotein cholesterol and apolipoprotein ai in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

high plasma concentrations of high density lipoprotein ch Gene Set

From GAD Gene-Disease Associations

genes associated with the disease high plasma concentrations of high density lipoprotein ch in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma chemerin levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma chemerin levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

f12 plasma deficiency, moderate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease f12 plasma deficiency, moderate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

high plasma cetp activity. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease high plasma cetp activity. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma lipoproteins Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma lipoproteins in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma lipid levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma lipid levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

increased plasma triglyceride levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease increased plasma triglyceride levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma fibrinogen levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma fibrinogen levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma total homocysteine and folate concentrations Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma total homocysteine and folate concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

differential plasma lipoprotein response to simvastatin Gene Set

From GAD Gene-Disease Associations

genes associated with the disease differential plasma lipoprotein response to simvastatin in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

specific levels of lp(a) in plasma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease specific levels of lp(a) in plasma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma folate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma folate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fasting plasma insulin levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fasting plasma insulin levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fasting plasma glucose Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fasting plasma glucose in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma protein c levels and thrombotic risk Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma protein c levels and thrombotic risk in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma eosinophil count Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma eosinophil count in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

increased interleukin-10 (il-10) plasma levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease increased interleukin-10 (il-10) plasma levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

high plasma factor viii: c levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease high plasma factor viii: c levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

high interleukin-1 beta plasma levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease high interleukin-1 beta plasma levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma triglyceride and c-reactive protein, fasting glucose Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma triglyceride and c-reactive protein, fasting glucose in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma hdl-c levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma hdl-c levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma coagulation factors Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma coagulation factors in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma homocysteine Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma homocysteine in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma apob and low density lipoprotein (ldl) cholesterol levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma apob and low density lipoprotein (ldl) cholesterol levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma folate vitamin b12 homocyst(e)ine and colorectal cancer risk Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma folate vitamin b12 homocyst(e)ine and colorectal cancer risk in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

imipramine plasma concentrations Gene Set

From GAD Gene-Disease Associations

genes associated with the disease imipramine plasma concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma lipid and apolipoprotein levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma lipid and apolipoprotein levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

serotonin plasma membrane transport proteins Gene Set

From GAD Gene-Disease Associations

genes associated with the disease serotonin plasma membrane transport proteins in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

haloperidol, plasma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease haloperidol, plasma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary artery disease. plasma lipoproteins. and longevity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary artery disease. plasma lipoproteins. and longevity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma cholesterol levels and drug response Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma cholesterol levels and drug response in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

increased plasma triglyceride and lower high-density lipoprotein cholesterol concentrations Gene Set

From GAD Gene-Disease Associations

genes associated with the disease increased plasma triglyceride and lower high-density lipoprotein cholesterol concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma renin and prorenin levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma renin and prorenin levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma lipid levels and body mass index Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma lipid levels and body mass index in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma fibrinogen levels in smokers and non-smokers Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma fibrinogen levels in smokers and non-smokers in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma concentrations of carvedilol Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma concentrations of carvedilol in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma lp (a) levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma lp (a) levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma c4b binding protein levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma c4b binding protein levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

plasma lipoprotein(a) levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease plasma lipoprotein(a) levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.